{"id":"hum0184","version":2,"url":"https://humandbs.dbcls.jp/research/hum0184/v2","datePublished":"2022-02-18","versions":[{"version":1,"datePublished":"2020-09-01"},{"version":2,"datePublished":"2022-02-18"}],"title":{"ja":"日本人全ゲノムデータベースの構築","en":"Construction of Japanese Whole-Genome database"},"summary":{"aims":{"ja":"東北メディカル・メガバンク計画は、大規模ゲノムコホート研究を行うことにより、地域医療の復興に貢献し、創薬研究や個別化医療等の次世代医療体制の構築を目指す事業である。これまで、4000人を超える検体の全ゲノムシークエンス解析を行い、日本人の遺伝的多様性をカタログ化したデータセット「日本人全ゲノム参照パネル」を作成した。これを用いて、インピュテーション精度の向上、疾患リスク予測の精度を向上、さらに日本人のゲノム研究の基盤を提供することを目的とする。","en":"Tohoku University Tohoku Medical Megabank Organization (ToMMo) and Iwate Tohoku Medical Megabank Organization (IMM) were founded to establish an advanced medical system to foster the reconstruction from the Great East Japan Earthquake. These organizations are developing a biobank that includes medical and genome information for supporting health and welfare in the Tohoku area. In the first stage, the part of our mission was to sequence the 4,000 individuals to construct Japanese whole-genome reference panel."},"methods":{"ja":"全ゲノムシークエンス","en":"Whole genome sequencing"},"targets":{"ja":"日本人一般住民 4,566名","en":"4,566 Japanese general residents"},"url":{"ja":[{"url":"https://jmorp.megabank.tohoku.ac.jp/","text":"https://jmorp.megabank.tohoku.ac.jp/"}],"en":[{"url":"https://jmorp.megabank.tohoku.ac.jp/","text":"https://jmorp.megabank.tohoku.ac.jp/"}]}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"一般住民：4,566名\n（日本人）","en":"4,566 general residents\n(Japanese)"},"typeOfData":{"ja":"NGS\n（WGS）","en":"NGS\n(WGS)"}},"releaseNote":{"ja":"JGAD000338に含まれるwhole genome sequencing解析データに対し、GEnome Medical alliance Japan（GEM Japan, GEM-J）の取り組みとして、GATK Best Practicesに準拠した方法により、GRCh37の参照ゲノム配列へのマッピングおよびバリアント検知を実施した際のbam/gvcfデータを追加した。","en":"Whole genome sequencing analyzed data included in the JGAD000338 were mapped to the GRCh37 reference genome sequence, and variant detection was carried out using the GATK (Genome Analysis Toolkit) standards. Bam files and gvcf files were added. This project is an initiative of the GEnome Medical alliance Japan (GEM Japan, GEM-J)."},"dataProviders":[{"name":{"ja":"山本 雅之","en":"Masayuki Yamamoto"},"organization":{"name":{"ja":"東北大学 東北メディカル・メガバンク機構","en":"Tohoku Medical Megabank Organization"}}}],"researchProjects":[{"name":{"ja":"東北メディカル・メガバンク計画","en":"Tohoku Medical Megabank Project"},"url":{"ja":[{"url":"https://www.megabank.tohoku.ac.jp/","text":"https://www.megabank.tohoku.ac.jp/"}],"en":[{"url":"https://www.megabank.tohoku.ac.jp/english/","text":"https://www.megabank.tohoku.ac.jp/english/"}]}}],"grants":[{"title":{"ja":"東北メディカル・メガバンク計画（東北大学）東日本大震災復興特別会計分","en":"Tohoku Medical Megabank Project (Tohoku University) Special Account of the Great East Japan Earthquake Disaster Recovery"},"agency":{"ja":"日本医療研究開発機構（AMED） 医療研究開発推進事業費補助金","en":"Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP20km0105001"]},{"title":{"ja":"東北メディカル・メガバンク計画（東北大学）一般会計分","en":"Tohoku Medical Megabank Project (Tohoku University) General Accounting"},"agency":{"ja":"日本医療研究開発機構（AMED） 医療研究開発推進事業費補助金","en":"Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP20km0105002"]},{"title":{"ja":"東北メディカル・メガバンク計画（岩手医科大学）東日本大震災復興特別会計分","en":"Tohoku Medical Megabank Project (Iwate Medical University) Special Account of the Great East Japan Earthquake Disaster Recovery"},"agency":{"ja":"日本医療研究開発機構（AMED） 医療研究開発推進事業費補助金","en":"Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP20km0105003"]},{"title":{"ja":"東北メディカル・メガバンク計画（岩手医科大学）一般会計分","en":"Tohoku Medical Megabank Project (Iwate Medical University) General Accounting"},"agency":{"ja":"日本医療研究開発機構（AMED） 医療研究開発推進事業費補助金","en":"Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP20km0105004"]}],"relatedPublications":[{"title":"3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome","doi":"https://doi.org/10.1038/s41439-019-0059-5","datasets":null}],"datasets":["JGAD000338","JGAD000339","JGAD000625"],"controlledAccessUsers":[]}